Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4653
Gene Symbol: MYOC
MYOC 		0.700 GeneticVariation disease BEFREE Myocilin variants, localized to the olfactomedin (OLF) domain, are linked to early-onset, inherited forms of open-angle glaucoma. 21612213 2011
Entrez Id: 4653
Gene Symbol: MYOC
MYOC 		0.700 GeneticVariation disease BEFREE Patients with a myocilin mutation had glaucoma diagnosed earlier (P < 0.001) and had higher maximum recorded intraocular pressures (P < 0.001) than did the control OAG subjects. 17197538 2007
Entrez Id: 4653
Gene Symbol: MYOC
MYOC 		0.700 GeneticVariation disease BEFREE A GLC1A gene Gln368Stop mutation in a patient with normal-tension open-angle glaucoma. 10209734 1999
Entrez Id: 4653
Gene Symbol: MYOC
MYOC 		0.700 Biomarker disease BEFREE To investigate the role of MYOC and CYP1B1 in Iranian juvenile open angle glaucoma (JOAG) patients. 18385784 2008
Entrez Id: 4653
Gene Symbol: MYOC
MYOC 		0.700 GeneticVariation disease LHGDN Novel MYOC gene mutation, Phe369Leu, in Japanese patients with primary open-angle glaucoma detected by denaturing high-performance liquid chromatography. 15534471 2004
Entrez Id: 4653
Gene Symbol: MYOC
MYOC 		0.700 GeneticVariation disease BEFREE Mutations in the myocilin gene in families with primary open-angle glaucoma and juvenile open-angle glaucoma. 12860809 2003
Entrez Id: 4653
Gene Symbol: MYOC
MYOC 		0.700 GeneticVariation disease BEFREE The aim of this study was to characterize a representative sample of the Peruvian population suffering open-angle glaucoma (OAG) with respect to the myocilin gene (MYOC) mutations, glaucoma phenotype, and ancestry for future glaucoma risk assessment. 22879734 2012
Entrez Id: 4653
Gene Symbol: MYOC
MYOC 		0.700 Biomarker disease BEFREE Founder effect in GLC1A-linked familial open-angle glaucoma in Northern France. 9556305 1998
Entrez Id: 4653
Gene Symbol: MYOC
MYOC 		0.700 Biomarker disease BEFREE To study the role of myocilin (MYOC) as a susceptibility gene for juvenile- and adult-onset open-angle glaucoma (JOAG and POAG, respectively). 15823921 2005
Entrez Id: 4653
Gene Symbol: MYOC
MYOC 		0.700 GeneticVariation disease LHGDN Identification of mutations in the myocilin (MYOC) gene in Taiwanese patients with juvenile-onset open-angle glaucoma. 17893664 2007
Entrez Id: 4653
Gene Symbol: MYOC
MYOC 		0.700 GeneticVariation disease BEFREE The novel heterozygous Thr377Arg MYOC mutation causes severe Juvenile Open Angle Glaucoma in a large Pakistani family. 23886590 2013
Entrez Id: 4653
Gene Symbol: MYOC
MYOC 		0.700 GeneticVariation disease BEFREE Identification of a novel MYOC mutation, p.(Trp373), in a family with open angle glaucoma. 24768183 2014
Entrez Id: 4653
Gene Symbol: MYOC
MYOC 		0.700 Biomarker disease BEFREE Cloning and characterization of subtracted cDNAs from a human ciliary body library encoding TIGR, a protein involved in juvenile open angle glaucoma with homology to myosin and olfactomedin. 9280311 1997
Entrez Id: 4653
Gene Symbol: MYOC
MYOC 		0.700 GeneticVariation disease BEFREE Variations in the myocilin gene in patients with open-angle glaucoma. 12215093 2002
Entrez Id: 4653
Gene Symbol: MYOC
MYOC 		0.700 GeneticVariation disease BEFREE Mutations in myocilin, predominantly within its olfactomedin (OLF) domain, are causative for the heritable form of open angle glaucoma in humans. 30802039 2019
Entrez Id: 4653
Gene Symbol: MYOC
MYOC 		0.700 Biomarker disease BEFREE CONCLUSION Our data suggest that MYOC overexpression is not a cause or an effect of intraocular pressure elevation and that MYOC itself is not associated with OAG. 20447966 2010
Entrez Id: 4653
Gene Symbol: MYOC
MYOC 		0.700 GeneticVariation disease BEFREE Mutations in the MYOC gene were identified in patients presenting with highly variable phenotypes from normal through OHT to severe OAG. 11815346 2002
Entrez Id: 4653
Gene Symbol: MYOC
MYOC 		0.700 GeneticVariation disease BEFREE Mutations in the MYOC gene may lead to juvenile open-angle glaucoma with high intraocular pressure, and are detected in about 4% of people with adult onset glaucoma. 12019210 2002
Entrez Id: 4653
Gene Symbol: MYOC
MYOC 		0.700 GeneticVariation disease BEFREE Identification of MYOC gene mutation and polymorphism in a large Malay family with juvenile-onset open angle glaucoma. 24883016 2014
Entrez Id: 4653
Gene Symbol: MYOC
MYOC 		0.700 GeneticVariation disease BEFREE Identification of further mutations in the TIGR gene increases its importance in the etiology of open angle glaucoma. 9521427 1998
Entrez Id: 4653
Gene Symbol: MYOC
MYOC 		0.700 GeneticVariation disease LHGDN Mutations including the promoter region of myocilin/TIGR gene. 15483649 2005
Entrez Id: 4653
Gene Symbol: MYOC
MYOC 		0.700 GeneticVariation disease BEFREE A locus for juvenile onset open angle glaucoma (OAG) has been assigned to chromosome 1q in families with autosomal dominant inheritance (GLC1A), due to mutations in the TIGR/MYOC gene. 11436127 2001
Entrez Id: 4653
Gene Symbol: MYOC
MYOC 		0.700 GeneticVariation disease BEFREE The novel Y371D myocilin mutation causes an aggressive form of juvenile open-angle glaucoma in a Caucasian family from the Middle-East. 19784393 2009
Entrez Id: 4653
Gene Symbol: MYOC
MYOC 		0.700 GeneticVariation disease BEFREE Mutant myocilin aggregation is associated with inherited open angle glaucoma, a prevalent optic neuropathy leading to blindness. 29724098 2018
Entrez Id: 4653
Gene Symbol: MYOC
MYOC 		0.700 GeneticVariation disease LHGDN Analysis of 15 primary open-angle glaucoma families from Australia identifies a founder effect for the Q368STOP mutation of myocilin. 12522550 2003